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TTN missense variants in two siblings with asymmetric facial and limb weakness
The Titin (TTN) gene encodes a large protein, titin, that is expressed in cardiac and skeletal muscles. Myopathies caused by TTN gene mutations, termed “titinopathy,” include hereditary myopathy with early respiratory failure (HMERF), late-onset tibial muscular dystrophy (TMD), limb-girdle muscular dystrophy, young- or early-adult-onset distal titinopathy, and Emery-Dreifuss-like myopathy [1]. Titinopathy patients present various symptoms such as limb muscle weakness and atrophy, respiratory failure, and cardiac failure, but rarely display facial weakness [2].
Source: Journal of the Neurological Sciences - May 6, 2020 Category: Neurology Authors: Ryo Sasaki, Yasuyuki Ohta, Koh Tadokoro, Namiko Matsumoto, Emi Nomura, Yoshio Omote, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Theerawat Kumutpongpanich, Ichizo Nishino, Koji Abe Tags: Letter to the Editor Source Type: research

Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy
We examined vastus lateralis muscle biopsies from 24 patients with pathologically diagnosed MM and clinically diagnosed chronic progressive external ophthalmoplegia, in comparison to the biopsies from 3 other groups:10 patients with inclusion body myositis (IBM), 11 younger adults, and 10 older subjects with no to minimal myopathic changes.
Source: Journal of the Neurological Sciences - March 31, 2020 Category: Neurology Authors: Jian-Qiang Lu, Cynthia M.F. Monaco, Thomas J. Hawke, Chuanzhu Yan, Mark A. Tarnopolsky Source Type: research

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes due to m.3243A   >  G mutation in a 76-year-old woman
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) with m.3243A  > G mutation is a common type of mitochondrial disease [1,2]. Most patients with MELAS develop stroke-like episodes before the age of 40, a criterion of MELAS [3]. However, increasing reports have demonstrated that elderly subjects (≥ 60 years old) may develop this mitochondrial encephalopathy [4 ,5]. Here, we report a 76-year-old woman who was previously healthy without any organ dysfunction related to mitochondrial abnormalities (except for a mild hearing disability) and developed encephalopathy accompanied by stro...
Source: Journal of the Neurological Sciences - March 18, 2020 Category: Neurology Authors: Kana Ueki, Yoshinobu Wakisaka, Kuniyuki Nakamura, Yuji Shono, Shinichi Wada, Yoji Yoshikawa, Yuta Matsukuma, Takeshi Uchiumi, Dongchong Kang, Takanari Kitazono, Tetsuro Ago Tags: Letter to the Editor Source Type: research

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes due to m.3243A   >  G mutation in a 76-year-old woman
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) with m.3243A  > G mutation is a common type of mitochondrial disease [1,2]. Most patients with MELAS develop stroke-like episodes before the age of 40, a criterion of MELAS [3]. However, increasing reports have demonstrated that elderly subjects (≥ 60 years old) may develop this mitochondrial encephalopathy [4,5]. Here, we report a 76-year-old woman who was previously healthy without any organ dysfunction related to mitochondrial abnormalities (except for a mild hearing disability) and developed encephalopathy accompanied by st...
Source: Journal of the Neurological Sciences - March 18, 2020 Category: Neurology Authors: Kana Ueki, Yoshinobu Wakisaka, Kuniyuki Nakamura, Yuji Shono, Shinichi Wada, Yoji Yoshikawa, Yuta Matsukuma, Takeshi Uchiumi, Dongchong Kang, Takanari Kitazono, Tetsuro Ago Tags: Letter to the Editor Source Type: research

Clinical trial data available for UX001, aceneuramic acid extended-release
UX001, aceneuramic acid extended-release (Ace-ER), was a treatment in clinical development that was intended to replace deficient sialic acid in patients with glucosamine (UDP-N-acetyl)-2-epimerase myopathy (GNE myopathy), also known as hereditary inclusion body myopathy. We recently published results from a phase 3, double-blind, placebo-controlled, randomized, international trial, which showed Ace-ER was not superior to placebo in improving muscle strength and function in patients with GNE myopathy [1].
Source: Journal of the Neurological Sciences - February 4, 2020 Category: Neurology Authors: Camille L. Bedrosian Tags: Letter to the Editor Source Type: research

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
This study aimed to investigate the demographic, clinical, and genetic features of MADD in Iran.
Source: Journal of the Neurological Sciences - January 22, 2020 Category: Neurology Authors: Yalda Nilipour, Farzad Fatehi, Saleheh Sanatinia, Anna Bradshaw, Jennifer Duff, Hanns Lochm üller, Rita Horvath, Shahriar Nafissi Source Type: research

Low heteroplasmy rates in clinically affected m.3243A   >  G carriers not necessarily explain the phenotype
In a recent article, Liu et al. reported about 17 patients from 7 Han families all carrying the m.3243A  > G variant who manifested phenotypically with mitochondrial leukoencephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (n = 5), myopathy (n = 2), neuropathy, ataxia, and retinitis pigmentosa (NARP) (n = 1), diabetes (n = 6), and hypoacusis (n = 3) [1]. Heteroplasmy rates in bl ood lymphocytes in these patients were highly variable, discordant to the clinical manifestations [1]. Among the clinically manifesting mutation carriers mutation loads ranged between 0 and 79% [1].
Source: Journal of the Neurological Sciences - December 4, 2019 Category: Neurology Authors: Josef Finsterer Tags: Letter to the Editor Source Type: research

Low heteroplasmy rates in clinically affected m.3243A   >  G carriers not necessarily explain the phenotype
In a recent article, Liu et al. reported about 17 patients from 7 Han families all carrying the m.3243A  > G variant who manifested phenotypically with mitochondrial leukoencephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (n = 5), myopathy (n = 2), neuropathy, ataxia, and retinitis pigmentosa (NARP) (n = 1), diabetes (n = 6), and hypoacusis (n = 3) [1]. Heteroplasmy rates in blood lymphocytes in these patients were highly variable, discordant to the clinical manifestations [1]. Among the clinically manifesting mutation carriers mutation loads ranged between 0 and 79% [1].
Source: Journal of the Neurological Sciences - December 4, 2019 Category: Neurology Authors: Josef Finsterer Tags: Letter to the Editor Source Type: research

Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A > G mutation in seven Han Chinese families
The m.3243A  > G mutation in the mitochondrial tRNALeu (UUR) gene is associated with a variety of phenotypic heterogeneity. The clinical spectrum and phenotypic-genotypic correlations in the Chinese patients are poorly understood. In the present study, we reported the clinical and genetic characterization, as w ell as haplogroups of seven Han Chinese families carrying the m.3243A > G mutation. Of the 39 matrilineal individuals, five suffered from mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), two had life-threatening mitochondrial myopathy (LTMM), and one patient had neuropathy,...
Source: Journal of the Neurological Sciences - November 5, 2019 Category: Neurology Authors: Gailing Liu, Xiya Shen, Yongan Sun, Qing Lv, Yuanyuan Li, Ailian Du Source Type: research

A novel homoplasmic mitochondrial DNA mutation (m.13376T > C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial cytopathy that usually affects people under 40  years of age with variable symptoms [1]. The prevalence of MELAS syndrome in Japan was reported to be 0.2: 100,000 [2]. MELAS can be diagnosed by serum analyses under an aerobic exercise test, brain magnetic resonance imaging (MRI), muscle biopsy and mitochondrial DNA (mtDNA) analysis [3]. Approx imately 80% of MELAS cases are caused by a mutation m.3243A > G of the mitochondrial transfer RNA gene [4].
Source: Journal of the Neurological Sciences - October 24, 2019 Category: Neurology Authors: Ryo Sasaki, Yasuyuki Ohta, Noriko Hatanaka, Koh Tadokoro, Emi Nomura, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Yoshio Omote, Eisaku Morimoto, Sanae Teshigawara, Jun Wada, Yu-ichi Goto, Koji Abe Tags: Letter to the Editor Source Type: research

Paraspinal amyotrophy in DNM-2-related centronuclear myopathy
Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by the morphological feature of centrally located nuclei in a large number of muscle fibers. CNM is related to several causative genes: dynamin 2 (DNM2), myotubularin (MTM1), amphiphysin 2 (BIN1), and ryanodine receptor 1 (RYR1) [1]. DNM2-related CNM (DNM2-CNM) is an autosomal-dominant inherited disease that accounts for about 50% of CNM cases [1]. Although DNM2-CNM has shown a variety of clinical manifestations, from severe neonatal onset to mild adult onset, most patients present with slowly progressive muscle weakness in the distal or sometimes pro...
Source: Journal of the Neurological Sciences - October 15, 2019 Category: Neurology Authors: Kensuke Kakiuchi, Kiichi Unoda, Hideto Nakajima, Ichizo Nishino, Shigeki Arawaka Tags: Letters to the Editor Source Type: research

Patients with MELAS with negative myopathology for characteristic ragged-red fibers
We report a series of patients with MELAS without significant myopathic changes.
Source: Journal of the Neurological Sciences - October 14, 2019 Category: Neurology Authors: Yuanyuan Lu, Jianwen Deng, Yuying Zhao, Zhe Zhang, Daojun Hong, Sheng Yao, Danhua Zhao, Jie Xie, Hezhi Fang, Yun Yuan, Zhaoxia Wang Source Type: research

Motor unit potential changes in myofibrillar myopathy
Both conventional and quantitative electromyography (Q-EMG) studies have been conducted in relatively large samples in common myopathies such as muscle dystrophies, inflammatory myopathies and mitochondrial myopathies [1,2]. These studies report a rather modest diagnostic sensitivity, with lowest sensitivity values found in mitochondrial myopathies [3]. In contrast, motor unit action potential (MUP) analysis appears very sensitive in sporadic inclusion body myositis, where a decreased mean duration is observed in 94% of the patients [4].
Source: Journal of the Neurological Sciences - March 19, 2019 Category: Neurology Authors: E. Anagnostou, I. Vasilakou, C. Papadopoulos, T. Zambelis, G. Papadimas Tags: Letter to the Editor Source Type: research

PD-1 inhibitor-associated severe myasthenia gravis with necrotizing myopathy and myocarditis
In recent years, immune checkpoint inhibitors are widely used to treat unresectable malignancies. Programmed cell death protein 1 (PD-1) inhibitors (i.e., nivolumab, pembrolizumab), although effective for treating melanoma, non-small cell lung cancer, and other malignancies [1], can have undesired neurological side effects including myasthenia gravis (MG), myopathy, and peripheral neuropathy [2,4]. To date, 44 cases of PD-1 inhibitor-associated MG (pMG) are reported, with only a few reports of this condition concomitant with myocarditis [2,4].
Source: Journal of the Neurological Sciences - February 13, 2019 Category: Neurology Authors: Hayato So, Ryotaro Ikeguchi, Masaki Kobayashi, Miki Suzuki, Yuko Shimizu, Kazuo Kitagawa Tags: Letter to the Editor Source Type: research

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy
We describe a family affected by a distal myopathy with autosomal dominant inheritance. The onset of the disease was in the third decade with gait impairment due to distal leg weakness. Subsequently, the disease progressed with an involvement of proximal lower limbs and hand muscles. Muscle biopsy, performed in one subject,identified relevant myofibrillar abnormalities.We performed a target gene panel testing for myofibrillar myopathies by NGS approach which identified a novel mutation in exon 3 of FLNC gene (c.A664G:p.M222V), within the N-terminal actin-binding (ABD) domain.
Source: Journal of the Neurological Sciences - January 17, 2019 Category: Neurology Authors: Chiara Gemelli, Valeria Prada, Chiara Fiorillo, Sabrina Fabbri, Lorenzo Maggi, Alessandro Geroldi, Sara Gibertini, Paola Mandich, Lucia Trevisan, Paola Fossa, Alberto Stefano Tagliafico, Angelo Schenone, Marina Grandis Tags: Letter to the Editor Source Type: research

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